Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera

ConclusionThese two variant alleles further document the complex nature of RCCX modules and highlight that not allCYP21A1P/CYP21A2 chimera severely impair 21OH activity.

Source: Molecular Genetics & Genomic Medicine - May 9, 2023 Category: Genetics & Stem Cells Authors: Qizong Lao, Deepika D. Burkardt, Sarah Kollender, Fabio R. Faucz, Deborah P. Merke Tags: CLINICAL REPORT Source Type: research